EP05.41: Alpha thalassemia major and malformation of cortical development: is it an incidental finding or truly related?

We report a case of a 24-weeks fetus with alpha thalassemia major (ATM) or Hb Bart's hydrops fetalis with malformation of cortical development. A 27-year-old woman, G1P0, was referred to our centre due to fetal cardiomegaly. Both the couple had microcytic hypochromic anemia with low MCH, MCV level. Level 2 ultrasound revealed severe fetal anemia, cardio-hepatomegaly, dysplasia of feet, placentomegaly. Neurosonography showed mild right ventriculomegaly 10mm, corpus callosum dysgenesis, asymmetric sylvian fissures, polymicrogyria and heterotopia in the right hemisphere. Amniocentesis was performed with both Gap PCR and SNP array showed that the fetus had homozygous –SEA deletions, normal exome sequencing result. These findings were consistent with clinical presentation of Hb Bart's hydrops fetalis syndrome. This is the first report about MCD in the case of ATM. We speculate that severe anemia can lead to abnormal early brain development that can cause MCD. Neurosonography should be warranted in case of ATM that is a candidate for intrauterine intervention. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.